rs386833878

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs386833878(-;AC)

Make rs386833878(AC;AC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848259

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833878
dbSNP (classic)	rs386833878
ClinGen	rs386833878
ebi	rs386833878
HLI	rs386833878
Exac	rs386833878
Gnomad	rs386833878
Varsome	rs386833878
LitVar	rs386833878
Map	rs386833878
PheGenI	rs386833878
Biobank	rs386833878
1000 genomes	rs386833878
hgdp	rs386833878
ensembl	rs386833878
geneview	rs386833878
scholar	rs386833878
google	rs386833878
pharmgkb	rs386833878
gwascentral	rs386833878
openSNP	rs386833878
23andMe	rs386833878
SNPshot	rs386833878
SNPdbe	rs386833878
MSV3d	rs386833878
GWAS Ctlg	rs386833878

Max Magnitude

0

ClinVar
Risk	rs386833878(AC;AC)
Alt	rs386833878(AC;AC)
Reference	Rs386833878(-;-)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36339162_36339163dupGT
CLNSRC	ClinVar
CLNACC	RCV000049849.1,

[PMID 9660941] Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

[PMID 18503012] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.